neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
MONDO:0018208Mondo
Findings
No curated finding names neurofibromatosis type 1 due to NF1 mutation or intragenic deletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
71 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cafe-au-lait spotHPOHP:0000957
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Axillary frecklingHPOHP:0000997
- Frequent (30% to 79% of cases)
- Bone cystHPOHP:0012062
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- Broad neckHPOHP:0000475
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Show the remaining 59
- Inguinal frecklingHPOHP:0030052
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Large handsHPOHP:0001176
- Frequent (30% to 79% of cases)
- Lisch nodulesHPOHP:0009737
- Frequent (30% to 79% of cases)
- Long footHPOHP:0001833
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Also called
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion